Canonical Allele Identifier: CA1026686937

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697520-G-GGGCGCCGGCTT
• gnomAD v4: 22-50697520-G-GGGCGCCGGCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697520_50697521insGGCGCCGGCTT , CM000684.2:g.50697520_50697521insGGCGCCGGCTT	GRCh38
NC_000022.10:g.51135948_51135949insGGCGCCGGCTT , CM000684.1:g.51135948_51135949insGGCGCCGGCTT	GRCh37
NC_000022.9:g.49482814_49482815insGGCGCCGGCTT	NCBI36
NG_008607.2:g.27879_27880insGGCGCCGGCTT
NG_070230.1:g.33098_33099insGGCGCCGGCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-44_948-43insGGCGCCGGCTT	ENSP00000489147.2:n.948-44_948-43insGGCGCCGGCTT
ENST00000414786.7:n.1532-44_1532-43insGGCGCCGGCTT
ENST00000673971.2:c.1305-44_1305-43insGGCGCCGGCTT	ENSP00000501192.1:n.1305-44_1305-43insGGCGCCGGCTT
ENST00000262795.6:c.948-44_948-43insGGCGCCGGCTT	ENSP00000489147.2:n.948-44_948-43insGGCGCCGGCTT
ENST00000673971.1:c.1305-44_1305-43insGGCGCCGGCTT	ENSP00000501192.1:n.1305-44_1305-43insGGCGCCGGCTT
ENST00000262795.5:c.1345-45_1345-44insGGCGCCGGCTT	ENSP00000489147.1:n.1345-45_1345-44insGGCGCCGGCTT
ENST00000414786.6:n.1532-44_1532-43insGGCGCCGGCTT
ENST00000445220.5:c.1326-44_1326-43insGGCGCCGGCTT	ENSP00000489407.1:n.1326-44_1326-43insGGCGCCGGCTT